Asset Details
Do you wish to reserve the book?
Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome
Do you wish to request the book?
Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Identification of variants in exon 4 of the LDLR gene and assessment of their effects on the produced proteins in saudi women with metabolic syndrome
2025
Overview
Background
Genetic factors might influence metabolic syndrome (MetS) or any of its components. It was postulated that low density lipoprotein receptor (
LDLR
) gene variants could play a role in cholesterol hemostasis and the development of MetS. However, the causal-effect relationship between such variants and the development of MetS is not clearly identified or even studied before in Saudi Arabian women. This study aims to identify the variants of
LDLR
exon-4 in Saudi Arabian women with MetS in comparison to healthy women and to assess the expected effect of amino acids alterations on the structure and functions of the LDLR proteins.
A total of 208 female Saudi patients with MetS and 104 controls were included in the study. The exon 4 of
LDLR
gene was studied by DNA sequencing (Sanger) and structural analysis was performed using Project HOPE software.
Results
Four variants were identified; 2 were missense variants (2.4%; 5/208): (p.D172N and p.D178N) and 2 were nonsense variants (stop gained) (1.44%; 3/208): (p.E140* and p.L135*). Structural analysis of the expected effects of such variants revealed that they might disrupt their interactions with other proteins or biomolecules, additionally, the nonsense variants via expressing a stop codon, these will produce a truncated protein resulting in a defective function of LDL receptor.
Conclusions
Four variants in the
LDLR
gene, exon 4 (2 missense and 2 nonsense variants) have been identified and their expected structural effects were assessed in Saudi Arabian women with MetS in Makkah region.
